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首页> 外文期刊>Balkan journal of medical genetics: BJMG >Genetic polymorphisms of hemostatic factors and thrombotic risk in non BCR-ABL myeloproliferative neoplasms: A pilot study
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Genetic polymorphisms of hemostatic factors and thrombotic risk in non BCR-ABL myeloproliferative neoplasms: A pilot study

机译：非BCR-ABL骨髓增生性肿瘤中止血因子和血栓形成风险的遗传多态性：一项初步研究

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The most important complications of Philadelphianegagive (non BCR-ABL) myeloproliferative neoplasms (MPNs) are vascular events. Our aim was to evaluate the effects of single nucleotide polymorphisms (SNPs), platelet glycoproteins (GPs) (Ia/IIa, Ib?±, IIb/IIIa and VI), von Willebrand factor (vWF), coagulation factor VII (FVII), ?2-fibrinogen, and the risk of thrombosis in patients with non BCR-ABL MPNs at the Lithuanian University of Health Sciences. Kaunas, Lithuania. Genotyping was done for 108 patients. The TT genotype of the GP Ia/IIa c.807C>T polymorphism was more frequently found in the group of MPN patients with arterial thrombosis compared to MPN patients who were thrombosis-free [26.5 vs. 11.5%, p = 0.049; odds ratio (OR) 2.68; 95% confidence interval (95% CI) 1.01-7.38]. The CT genotype of the ?2-fibrinogen c.-148C>T polymorphism occurred more frequently in MPN patients with arterial, and total thrombosis compared to the wild or homozygous genotype (57.7 vs. 40.0 vs. 12.5%; p = 0.027), (64.7 vs. 44.4 vs. 25%; p = 0.032), respectively. The carrier state for the c.-323P10 variant of FVII SNP (summation of P10/10 and P0/10) was more frequent in MPN patients with thrombosis compared to the wild-type genotype carriers (71.4 vs. 43.4%; p = 0.049; OR 3.26; 95% CI 1.01-11.31). The coexistence of heterozygous ?2-fibrinogen c.-148C>T and FVII c.-323P0/10 SNP, increased the risk of arterial thrombosis (21.1 vs. 3.7%, p = 0.008; OR 6.93; 95% CI 1.38-34.80). The TT genotype of GP Ia/IIa c.807C>T, the CT genotype of ?2-fibrinogen c.-148C>T and FVII c.-323P0/10 SNP could be associated with risk of thrombosis in MPN patients.
机译：费城阴性（非BCR-ABL）骨髓增生性肿瘤（MPN）最重要的并发症是血管事件。我们的目的是评估单核苷酸多态性（SNPs），血小板糖蛋白（GPs）（Ia / IIa，Ib？±，IIb / IIIa和VI），von Willebrand因子（vWF），凝血因子VII（FVII），立陶宛卫生大学的非BCR-ABL MPN患者的β2-纤维蛋白原和血栓形成的风险。立陶宛考纳斯。对108例患者进行了基因分型。与无血栓形成的MPN患者相比，GP Ia / IIa c.807C> T多态性的TT基因型与无血栓形成的MPN患者相比更为常见[26.5 vs. 11.5％，p = 0.049;比值比（OR）2.68; 95％置信区间（95％CI）1.01-7.38]。与野生型或纯合基因型相比，MPN患者中动脉血β2-纤维蛋白原c.-148C> T多态性的CT基因型发生率更高（总血栓形成为57.7 vs. 40.0 vs. 12.5％; p = 0.027）， （分别为64.7 vs.44.4 vs.25％; p = 0.032）。与野生型基因型携带者相比，患有血栓形成的MPN患者中FVII SNP的c.-323P10变异体的携带者状态（P10 / 10和P0 / 10的总和）更为频繁（71.4比43.4％; p = 0.049 ;或3.26; 95％CI 1.01-11.31）。杂合性α2-纤维蛋白原c.-148C> T和FVII c.-323P0 / 10 SNP的共存增加了动脉血栓形成的风险（21.1 vs. 3.7％，p = 0.008; OR 6.93; 95％CI 1.38-34.80 ）。 GP Ia / IIa的TT基因型c.807C> T，β2-纤维蛋白原c.-148C> T的CT基因型和FVII c.-323P0 / 10 SNP可能与MPN患者的血栓形成风险相关。

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